Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.
Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.
Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.
Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)
Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).
Involuntary rhythmical movements of the eyes in the normal person. These can be naturally occurring as in end-position (end-point, end-stage, or deviational) nystagmus or induced by the optokinetic drum (NYSTAGMUS, OPTOKINETIC), caloric test, or a rotating chair.
The part of brain that lies behind the BRAIN STEM in the posterior base of skull (CRANIAL FOSSA, POSTERIOR). It is also known as the "little brain" with convolutions similar to those of CEREBRAL CORTEX, inner white matter, and deep cerebellar nuclei. Its function is to coordinate voluntary movements, maintain balance, and learn motor skills.
A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
The 2nd cranial nerve which conveys visual information from the RETINA to the brain. The nerve carries the axons of the RETINAL GANGLION CELLS which sort at the OPTIC CHIASM and continue via the OPTIC TRACTS to the brain. The largest projection is to the lateral geniculate nuclei; other targets include the SUPERIOR COLLICULI and the SUPRACHIASMATIC NUCLEI. Though known as the second cranial nerve, it is considered part of the CENTRAL NERVOUS SYSTEM.
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.
Normal nystagmus produced by looking at objects moving across the field of vision.
A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)
A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)
Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.
A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.
Recording of nystagmus based on changes in the electrical field surrounding the eye produced by the difference in potential between the cornea and the retina.
A sedative and mild hypnotic with potentially toxic effects.
Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.
The portion of the optic nerve seen in the fundus with the ophthalmoscope. It is formed by the meeting of all the retinal ganglion cell axons as they enter the optic nerve.
Enzymes that hydrolyze GTP to GDP. EC 3.6.1.-.
A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
An anticonvulsant that is used to treat a wide variety of seizures. It is also an anti-arrhythmic and a muscle relaxant. The mechanism of therapeutic action is not clear, although several cellular actions have been described including effects on ion channels, active transport, and general membrane stabilization. The mechanism of its muscle relaxant effect appears to involve a reduction in the sensitivity of muscle spindles to stretch. Phenytoin has been proposed for several other therapeutic uses, but its use has been limited by its many adverse effects and interactions with other drugs.
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
A calcium-independent phospholipase A2 group that may play a role in membrane phospholipid remodeling and homeostasis by controling the levels of PHOSPHATIDYLCHOLINE in mammalian cell membranes.
A characteristic symptom complex.
Genes that influence the PHENOTYPE only in the homozygous state.
Recording of the average amplitude of the resting potential arising between the cornea and the retina in light and dark adaptation as the eyes turn a standard distance to the right and the left. The increase in potential with light adaptation is used to evaluate the condition of the retinal pigment epithelium.
The output neurons of the cerebellar cortex.
Inflammation of the optic nerve. Commonly associated conditions include autoimmune disorders such as MULTIPLE SCLEROSIS, infections, and granulomatous diseases. Clinical features include retro-orbital pain that is aggravated by eye movement, loss of color vision, and contrast sensitivity that may progress to severe visual loss, an afferent pupillary defect (Marcus-Gunn pupil), and in some instances optic disc hyperemia and swelling. Inflammation may occur in the portion of the nerve within the globe (neuropapillitis or anterior optic neuritis) or the portion behind the globe (retrobulbar neuritis or posterior optic neuritis).
The X-shaped structure formed by the meeting of the two optic nerves. At the optic chiasm the fibers from the medial part of each retina cross to project to the other side of the brain while the lateral retinal fibers continue on the same side. As a result each half of the brain receives information about the contralateral visual field from both eyes.
The part of the brain that connects the CEREBRAL HEMISPHERES with the SPINAL CORD. It consists of the MESENCEPHALON; PONS; and MEDULLA OBLONGATA.
Clarity or sharpness of OCULAR VISION or the ability of the eye to see fine details. Visual acuity depends on the functions of RETINA, neuronal transmission, and the interpretative ability of the brain. Normal visual acuity is expressed as 20/20 indicating that one can see at 20 feet what should normally be seen at that distance. Visual acuity can also be influenced by brightness, color, and contrast.
Voluntary or reflex-controlled movements of the eye.
Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
Elicitation of a rotatory nystagmus by stimulating the semicircular canals with water or air which is above or below body temperature. In warm caloric stimulation a rotatory nystagmus is developed toward the side of the stimulated ear; in cold, away from the stimulated side. Absence of nystagmus indicates the labyrinth is not functioning.
A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)
An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (EAR, INNER); VESTIBULAR NERVE; BRAINSTEM; or CEREBRAL CORTEX. Lesions in the TEMPORAL LOBE and PARIETAL LOBE may be associated with FOCAL SEIZURES that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132).
Neurons of the innermost layer of the retina, the internal plexiform layer. They are of variable sizes and shapes, and their axons project via the OPTIC NERVE to the brain. A small subset of these cells act as photoreceptors with projections to the SUPRACHIASMATIC NUCLEUS, the center for regulating CIRCADIAN RHYTHM.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)
Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)
Injuries to the optic nerve induced by a trauma to the face or head. These may occur with closed or penetrating injuries. Relatively minor compression of the superior aspect of orbit may also result in trauma to the optic nerve. Clinical manifestations may include visual loss, PAPILLEDEMA, and an afferent pupillary defect.
Idiopathic inflammation of the VESTIBULAR NERVE, characterized clinically by the acute or subacute onset of VERTIGO; NAUSEA; and imbalance. The COCHLEAR NERVE is typically spared and HEARING LOSS and TINNITUS do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)
Diseases affecting the eye.
The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.
A number of tests used to determine if the brain or balance portion of the inner ear are causing dizziness.
The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent.
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
Three long canals (anterior, posterior, and lateral) of the bony labyrinth. They are set at right angles to each other and are situated posterosuperior to the vestibule of the bony labyrinth (VESTIBULAR LABYRINTH). The semicircular canals have five openings into the vestibule with one shared by the anterior and the posterior canals. Within the canals are the SEMICIRCULAR DUCTS.
Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.
Filarial infection of the eyes transmitted from person to person by bites of Onchocerca volvulus-infected black flies. The microfilariae of Onchocerca are thus deposited beneath the skin. They migrate through various tissues including the eye. Those persons infected have impaired vision and up to 20% are blind. The incidence of eye lesions has been reported to be as high as 30% in Central America and parts of Africa.
Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue.
Recording of electric potentials in the retina after stimulation by light.
Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed)
Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)
Subacute inflammation of the inguinal lymph glands caused by certain immunotypes of CHLAMYDIA TRACHOMATIS. It is a sexually transmitted disease in the U.S. but is more widespread in developing countries. It is distinguished from granuloma venereum (see GRANULOMA INGUINALE), which is caused by Calymmatobacterium granulomatis.
A reflex wherein impulses are conveyed from the cupulas of the SEMICIRCULAR CANALS and from the OTOLITHIC MEMBRANE of the SACCULE AND UTRICLE via the VESTIBULAR NUCLEI of the BRAIN STEM and the median longitudinal fasciculus to the OCULOMOTOR NERVE nuclei. It functions to maintain a stable retinal image during head rotation by generating appropriate compensatory EYE MOVEMENTS.
The electric response evoked in the cerebral cortex by visual stimulation or stimulation of the visual pathways.
In invertebrate zoology, a lateral lobe of the FOREBRAIN in certain ARTHROPODS. In vertebrate zoology, either of the corpora bigemina of non-mammalian VERTEBRATES. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed, p1329)
Common member of the Gramineae family used as cattle FODDER. It harbors several fungi and other parasites toxic to livestock and people and produces allergenic compounds, especially in its pollen. The most commonly seen varieties are L. perenne, L. multiflorum, and L. rigidum.
An oval, bony chamber of the inner ear, part of the bony labyrinth. It is continuous with bony COCHLEA anteriorly, and SEMICIRCULAR CANALS posteriorly. The vestibule contains two communicating sacs (utricle and saccule) of the balancing apparatus. The oval window on its lateral wall is occupied by the base of the STAPES of the MIDDLE EAR.
A form of MACULAR DEGENERATION also known as dry macular degeneration marked by occurrence of a well-defined progressive lesion or atrophy in the central part of the RETINA called the MACULA LUTEA. It is distinguishable from WET MACULAR DEGENERATION in that the latter involves neovascular exudates.
The continuous visual field seen by a subject through space and time.
Biochemical identification of mutational changes in a nucleotide sequence.
Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
A disease that is characterized by frequent urination, excretion of large amounts of dilute URINE, and excessive THIRST. Etiologies of diabetes insipidus include deficiency of antidiuretic hormone (also known as ADH or VASOPRESSIN) secreted by the NEUROHYPOPHYSIS, impaired KIDNEY response to ADH, and impaired hypothalamic regulation of thirst.
Pathological processes of the VESTIBULAR LABYRINTH which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls.
The continuous remodeling of MITOCHONDRIA shape by fission and fusion in response to physiological conditions.
Proteins encoded by the mitochondrial genome or proteins encoded by the nuclear genome that are imported to and resident in the MITOCHONDRIA.
The muscles that move the eye. Included in this group are the medial rectus, lateral rectus, superior rectus, inferior rectus, inferior oblique, superior oblique, musculus orbitalis, and levator palpebrae superioris.
Slender processes of NEURONS, including the AXONS and their glial envelopes (MYELIN SHEATH). Nerve fibers conduct nerve impulses to and from the CENTRAL NERVOUS SYSTEM.
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.
A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.
A specialized field of physics and engineering involved in studying the behavior and properties of light and the technology of analyzing, generating, transmitting, and manipulating ELECTROMAGNETIC RADIATION in the visible, infrared, and ultraviolet range.
The magnitude of INBREEDING in humans.
The positioning and accommodation of eyes that allows the image to be brought into place on the FOVEA CENTRALIS of each eye.
Disorders characterized by an abnormal reduction in muscle volume due to a decrease in the size or number of muscle fibers. Atrophy may result from diseases intrinsic to muscle tissue (e.g., MUSCULAR DYSTROPHY) or secondary to PERIPHERAL NERVOUS SYSTEM DISEASES that impair innervation to muscle tissue (e.g., MUSCULAR ATROPHY, SPINAL).
Semiautonomous, self-reproducing organelles that occur in the cytoplasm of all cells of most, but not all, eukaryotes. Each mitochondrion is surrounded by a double limiting membrane. The inner membrane is highly invaginated, and its projections are called cristae. Mitochondria are the sites of the reactions of oxidative phosphorylation, which result in the formation of ATP. They contain distinctive RIBOSOMES, transfer RNAs (RNA, TRANSFER); AMINO ACYL T RNA SYNTHETASES; and elongation and termination factors. Mitochondria depend upon genes within the nucleus of the cells in which they reside for many essential messenger RNAs (RNA, MESSENGER). Mitochondria are believed to have arisen from aerobic bacteria that established a symbiotic relationship with primitive protoeukaryotes. (King & Stansfield, A Dictionary of Genetics, 4th ed)
Glial cell derived tumors arising from the optic nerve, usually presenting in childhood.
A gelatinous membrane overlying the acoustic maculae of SACCULE AND UTRICLE. It contains minute crystalline particles (otoliths) of CALCIUM CARBONATE and protein on its outer surface. In response to head movement, the otoliths shift causing distortion of the vestibular hair cells which transduce nerve signals to the BRAIN for interpretation of equilibrium.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A complex of proteins that assemble the SNRNP CORE PROTEINS into a core structure that surrounds a highly conserved RNA sequence found in SMALL NUCLEAR RNA. They are found localized in the GEMINI OF COILED BODIES and in the CYTOPLASM. The SMN complex is named after the Survival of Motor Neuron Complex Protein 1, which is a critical component of the complex.
Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect.
An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A genus of GRAM-POSITIVE ENDOSPORE-FORMING RODS, in the family Alicyclobacillaceae, containing a unique lipid in their membranes.
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
The four cellular masses in the floor of the fourth ventricle giving rise to a widely dispersed special sensory system. Included is the superior, medial, inferior, and LATERAL VESTIBULAR NUCLEUS. (From Dorland, 27th ed)
A flavoprotein and iron sulfur-containing oxidoreductase that catalyzes the oxidation of NADH to NAD. In eukaryotes the enzyme can be found as a component of mitochondrial electron transport complex I. Under experimental conditions the enzyme can use CYTOCHROME C GROUP as the reducing cofactor. The enzyme was formerly listed as EC 1.6.2.1.
A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
Method of measuring and mapping the scope of vision, from central to peripheral of each eye.
An imaging method using LASERS that is used for mapping subsurface structure. When a reflective site in the sample is at the same optical path length (coherence) as the reference mirror, the detector observes interference fringes.
A SMN complex protein that is closely-related to SURVIVAL OF MOTOR NEURON 1 PROTEIN. In humans, the protein is encoded by an often duplicated gene found near the inversion centromere of a large inverted region of CHROMOSOME 5.
A general term for the complete loss of the ability to hear from both ears.
An area approximately 1.5 millimeters in diameter within the macula lutea where the retina thins out greatly because of the oblique shifting of all layers except the pigment epithelium layer. It includes the sloping walls of the fovea (clivus) and contains a few rods in its periphery. In its center (foveola) are the cones most adapted to yield high visual acuity, each cone being connected to only one ganglion cell. (Cline et al., Dictionary of Visual Science, 4th ed)
Pathological processes of the inner ear (LABYRINTH) which contains the essential apparatus of hearing (COCHLEA) and balance (SEMICIRCULAR CANALS).
Repair or renewal of hepatic tissue.
Technique for limiting use, activity, or movement by immobilizing or restraining animal by suspending from hindlimbs or tails. This immobilization is used to simulate some effects of reduced gravity and study weightlessness physiology.
The upper part of the human body, or the front or upper part of the body of an animal, typically separated from the rest of the body by a neck, and containing the brain, mouth, and sense organs.
Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)
Images seen by one eye.
An individual in which both alleles at a given locus are identical.
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a "cross-eye" appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.
Elements of limited time intervals, contributing to particular results or situations.
General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
An imprecise term which may refer to a sense of spatial disorientation, motion of the environment, or lightheadedness.
A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.
The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.
A series of tests used to assess various functions of the eyes.
An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)
Any method used for determining the location of and relative distances between genes on a chromosome.
Examination of the interior of the eye with an ophthalmoscope.
GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis.
Symptoms include optic atrophy, nystagmus, cerebellar ataxia, seizures, spasticity, psychomotor retardation, ...
Sect., 31.) Congenital lues causing optic atrophy and ultimately leading to dementia paralytica juvenilis. (Proc. Roy. Soc. Med ... Head turned and said, "Ah I see I have taught you too well!" This marked the onset of Parkinson's symptoms which would lead him ... J., 1912, 40, 337, 358, 375, 396,408; 1913, 42, 23.) Nystagmoid movements of palate and lids, lateral and rotatory nystagmus, ... cerebellar incoordination. (Proc. Roy. Soc. Med., 1912-13, 6, Neurol. Sect., 53.) Athetosis of left hand with tremor of right ...
Their main features were psychomotor retardation, cerebral and cerebellar atrophy and fluctuating hormone levels (e.g.prolactin ... nystagmus, optic disc pallor, and reduced rod function on electroretinography. Three subtypes PMM2-CDG, PMI-CDG, ALG6-CDG can ... Mannose supplementation relieves the symptoms in MPI-CDG for the most part, even though the hepatic fibrosis may persist. ... cerebellar hypoplasia is a common finding. Ocular abnormalities of CDG-Ia include: myopia, infantile esotropia, delayed visual ...
... nystagmus, optic neuritis, phosphenes or diplopia), fatigue and acute or chronic pain syndromes, bladder and bowel difficulties ... Sechi GP, Zuddas M, Piredda M, Agnetti V, Sau G, Piras ML, Tanca S, Rosati G (1989). "Treatment of cerebellar tremors with ... Measures of tissue atrophy are well correlated with, and predict, cognitive dysfunction. Neuropsychological outcomes are highly ... Up to 50% of patients with MS will develop an episode of optic neuritis and 20% of the time optic neuritis is the presenting ...
Children with ZTTK syndrome may present with vision problems including optic atrophy and cerebral visual impairment, resulting ... "Arnold Chiari Malformation: Symptoms, Types, and Treatment". WebMD. Retrieved 2019-04-28. Vissers, Lisenka E. L. M.; Gilissen, ... Strabismus; misalignment or crossing of the eyes when viewing an object, direct hypermetropia; farsightedness, and nystagmus; ... hypoplasia of the corpus callosum and cerebellar hemispheres and loss of periventricular white matter. Most individuals with ...
Finally, the symptoms involving stance and gait occur in about 23% of patients and result from dysfunction in the cerebellum ... Brain atrophy associated with WKS occurs in the following regions of the brain: the mammillary bodies, the thalamus, the ... In about 29% of patients, ocular disturbances consist of nystagmus and paralysis of the lateral rectus muscles or other muscles ... Butterworth, RF (1993). "Pathophysiology of cerebellar dysfunction in the Wernicke-Korsakoff syndrome". The Canadian Journal of ...
At toxic doses, patients experience vertical nystagmus, double vision, sedation, slurred speech, cerebellar ataxia, and tremor ... The degree of atrophy is related to the duration of phenytoin treatment and is not related to dosage of the medication. ... Phenytoin for neuroprotection in patients with acute optic neuritis: a randomised, placebo-controlled, phase 2 trial, The ... Also effective in controlling focal seizures with autonomic symptoms. Absence seizures: Not used in treatment of pure absence ...
G13.2) Systemic atrophy primarily affecting central nervous system in myxoedema. *(G13.8) Systemic atrophy primarily affecting ... G11.1) Early-onset cerebellar ataxia *Early-onset cerebellar ataxia with essential tremor ... Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified XIX S00-T98 Injury, poisoning and ... Nystagmus. *Optic neuritis. *Pain. *Uhthoff's phenomenon. *Dawson's fingers. Diagnosis and evolution following. *Diagnostic ...
Signs and symptoms[edit]. The syndrome is a combined manifestation of two namesake disorders, Wernicke encephalopathy and ... Brain atrophy associated with WKS occurs in the following regions of the brain: the mammillary bodies, the thalamus, the ... In about 29% of patients, ocular disturbances consist of nystagmus and paralysis of the lateral rectus muscles or other muscles ... Butterworth, RF (1993). "Pathophysiology of cerebellar dysfunction in the Wernicke-Korsakoff syndrome". The Canadian Journal of ...
Signs and symptoms[edit]. Limitation of abduction of the right eye. This individual tries to look to his right, but the right ... Optic disc. *Optic neuritis *optic papillitis. *Papilledema *Foster Kennedy syndrome. *Optic atrophy ... 3. Cross fixation which develops in the presence of infantile esotropia or nystagmus blockage syndrome and results in habitual ... As the VIth nerve passes through the subarachnoid space it lies adjacent to anterior inferior and posterior inferior cerebellar ...
Symptoms include optic atrophy, nystagmus, cerebellar ataxia, seizures, spasticity, psychomotor retardation, ...
Sect., 31.) Congenital lues causing optic atrophy and ultimately leading to dementia paralytica juvenilis. (Proc. Roy. Soc. Med ... Head turned and said, "Ah I see I have taught you too well!" This marked the onset of Parkinsons symptoms which would lead him ... J., 1912, 40, 337, 358, 375, 396,408; 1913, 42, 23.) Nystagmoid movements of palate and lids, lateral and rotatory nystagmus, ... cerebellar incoordination. (Proc. Roy. Soc. Med., 1912-13, 6, Neurol. Sect., 53.) Athetosis of left hand with tremor of right ...
... which may include symptoms, causes, inheritance, treatments, orphan drugs, associated orgs, and other relevant data. ... Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be ... Symptoms. Symptoms and their Known Frequencies. Were currently performing maintenance on our symptoms information from GARD. ... Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, ...
Tell the examiner that you would like to examine the fundus for optic atrophy as demyelination is the commonest cause of ... How may cerebellar signs manifest?. · Disorders of movement:. -Nystagmus: coarse horizontal nystagmus with lateral cerebellar ... Waxing and waning of symptoms (multiple sclerosis).. · Stroke (brainstem vascular lesion).. · Drug toxicity: phenytoin, alcohol ... This patient has a cerebeilar syndrome with optic atrophy (lesion) due to multiple sclerosis (aetiology) and is markedly ataxic ...
SYMPTOMS. The most characteristic symptom of cerebellar degeneration is a wide-legged, unsteady, lurching walk, usually ... Other symptoms include slow, unsteady and jerky movement of the arms or legs, slowed and slurred speech, and nystagmus - rapid ... We then ended up at a doctor in Jackson, Mississippi, who is a specialist in cerebellar atrophy, and he has tried to narrow ... His optic nerve is damaged, which means his vision is extremely poor. He sees double all the time, so he wears prisms in his ...
A) Sagittal T1-weighted image demonstrating global cerebral atrophy, with more marked cerebellar atrophy. (B) Axial T1-weighted ... Silver, MR, Sethi, KD, Mehta, SH, Nichols, FT and Morgan, JC (2015). Case report of optic atrophy in dentatorubropallidoluysian ... Clinical symptoms are progressive, with life expectancy typically 8-16 years from symptom onset.1,9 At present, no disease- ... and there was evidence of both vertical and horizontal nystagmus. Finger-nose, heel-shin, and tandem gait testing revealed ...
Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. ... Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (Hepatic Fibrosis- ... The optic nerves swell and become damaged DeGrouchys Syndrome A person who has DeGrouchys will have a short stature, ... Primary position nystagmus is also common, while occasionally associated features include strabismus and ptosis. [ojrd. ...
  • Infantile Cerebellar-Retinal Degeneration, also known as icrd , is related to retinitis and retinal degeneration , and has symptoms including ataxia , athetosis and seizures . (malacards.org)
  • Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia , ataxia , mild to moderate developmental delay , short stature , hip dislocation, and tooth eruption disturbances. (nih.gov)
  • He showed horizontal gaze palsy, gaze-evoked nystagmus, dysarthria and cerebellar ataxia. (aao.org)
  • Cerebellar ataxia , areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is a neurological disorder. (nih.gov)
  • Complicated SPGs are accompanied by additional neurologic symptoms such as cerebellar ataxia, sensory loss, mental retardation, nystagmus, and optic atrophy (summary by Steinmuller et al. (malacards.org)
  • Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. (mendelian.co)
  • Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement. (mendelian.co)
  • Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness. (avivasysbio.com)
  • The outstanding symptom is ataxia with impairment of gait and weakness in the limbs. (arizona.edu)
  • This patient initially presented with cerebellar ataxia at the age of 3 years, which was followed by symptoms of mental retardation, extrapyramidal signs, and epileptic seizure. (biomedcentral.com)
  • It presents with early developmental delay , central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia , non-progressive ataxia and nystagmus . (cdc.gov)
  • The more side of kin remains off the film is diaphragmatic: prone to produce an effusion, hydrocephalus, ataxia, nystagmus, and macular scarring, opacification, and pointless adventures before even after levitra pills 20 mg. (mrcpromotions.com)
  • So be used with proteins have been very swollen, white, with hormone levels less than cerebellar ataxia, nystagmus, vertigo, vomiting, but physically extrudes to need robust public concern. (mrcpromotions.com)
  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a condition that affects muscle movement due to atrophy of the superior vermis, cervical spinal cord, cerebellum, and cerebral cortex. (arvojournals.org)
  • The signs and symptoms worsen over the years, and spasticity and ataxia of the arms and legs increase. (arvojournals.org)
  • Ataxia, dysarthria, spasticity with extensor plantar reflexes, distal muscle wasting and sensory loss, and horizontal gaze-evoked nystagmus are the most frequent neurologic signs. (arvojournals.org)
  • Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. (biomedcentral.com)
  • Cerebellar ataxia can affect virtually any body part causing movement abnormalities. (biomedcentral.com)
  • Gait, truncal, and limb ataxia are often the most obvious cerebellar findings though nystagmus, saccadic abnormalities, and dysarthria are usually associated. (biomedcentral.com)
  • Other neurodegenerative disorders, such as Parkinson's disease and multiple sclerosis , may present cerebellar and/or gait ataxia as one of the clinical signs. (encyclopedia.com)
  • Dominant Spinocerebellar Ataxias (SCAs) have several overlapping clinical signs, and a common feature to those belonging to the ADCA group is cerebellar ataxia, which manifests in difficulty walking and speaking. (encyclopedia.com)
  • Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay. (alchetron.com)
  • This umbrella includes patients with rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome. (rarediseases.org)
  • She had nystagmus , scanning speech, bilateral papilloedema and ataxia. (symptoma.com)
  • childhood-onset slowly progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy, and in 2 patients, optic atrophy as well as vertical gaze and convergence palsies and nystagmus [ncbi.nlm.nih.gov] Liver cirrhosis was rare. (symptoma.com)
  • An examination revealed spontaneous upbeat nystagmus ( Video 1 ), gaze-evoked nystagmus ( Video 2 ), and gait ataxia. (symptoma.com)
  • [ncbi.nlm.nih.gov] Here we describe a teenage girl who develops vomiting after Roux-en-Y gastric bypass and presented with nystagmus , irritability, and ataxia. (symptoma.com)
  • Hypertrophic cardiomyopathy Ataxia Peripheral neuropathy Optic atrophy. (blaenavon.biz)
  • Permanent ataxia and even cerebellar atrophy may result late in the disease course. (blaenavon.biz)
  • It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. (blaenavon.biz)
  • A new dominantly inherited pure cerebellar ataxia, SCA Schizophrenia in a patient with spinocerebellar ataxia esponocerebelosa Tests in GTR by Gene. (blaenavon.biz)
  • Other cerebellar findings include nystagmus, dysmetria on finger-to-nose testing, and ataxia on heel-to-shin testing. (medscape.com)
  • Cerebellar ataxia (severe incoordination) and cerebellar atrophy. (rarediseasesnetwork.org)
  • Heterozygous inheritance of a different set of autosomal dominant ELOVL4 mutations that leads to a full-length protein with single amino acid substitutions causes spinocerebellar ataxia 34 (SCA34), a late-onset neurodegenerative disease characterized by gait ataxia and cerebellar atrophy. (frontiersin.org)
  • We report a young woman with systemic lupus erythematosus (SLE) and an acute cerebellar ataxia. (scielo.org.za)
  • Acute cerebellar ataxia has been described in SLE, although little has been published in this regard. (scielo.org.za)
  • A physical examination revealed sinus tachycardia, drowsiness, mild confusion, nystagmus, dysarthria, truncal and limb ataxia and bilateral partial 6th cranial nerve palsies. (scielo.org.za)
  • Ataxia with oculomotor apraxia type 2 (AOA2), recently renamed as ATX-SETX, is an autosomal recessive, progressive neurodegenerative disorder belonging to inherited cerebellar ataxias. (bvsalud.org)
  • A combination of cerebellar ataxia, oculomotor apraxia with elevated AFP and cerebellar atrophy are highly suggestive of ATX-SETX. (bvsalud.org)
  • Ataxia with Oculomotor Apraxia Type 1 (AOA1) is an autosomal-recessive cerebellar ataxia characterized by early-onset cerebellar atrophy and axonal sensorimotor polyneuropathy. (bvsalud.org)
  • BACKGROUND: The Scale for the Assessment and Rating of Ataxia (SARA) is a commonly used scale measuring the severity of cerebellar ataxia and is a candidate for outcome measurement in foreseeable clinical trials in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS). (bvsalud.org)
  • Cerebellar ataxia is classically considered as uncommon in HD clinical spectrum. (bvsalud.org)
  • Objective: To determine the prevalence of cerebellar ataxia in patients with HD, both in the early and in the late stages of HD. (bvsalud.org)
  • Six (8.33%) patients presented with cerebellar ataxia as first symptom. (bvsalud.org)
  • The presence of cerebellar ataxia in HD is relevant and it may occur even in early stages, and should be included as part of the motor features of the disease. (bvsalud.org)
  • A gait disorder that is difficult to differentiate from cerebellar ataxia may be due to obstructive hydrocephalus. (burlesqueaustralia.com)
  • Likewise, upward herniation caused by a posterior fossa tumor can lead to superior cerebellar artery ischemia and may cause unilateral ataxia to become more severe or bilateral. (burlesqueaustralia.com)
  • [email protected]#To summarize the clinical characteristics of a patient with cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome, followed by relative literature review. (bvsalud.org)
  • [email protected]#As for young patients who suffer from acute cerebellar ataxia after fever, disappeared tendon reflexes, atrophy of optic nerves or sensorineural hearing loss, they should be alerted to CAPOS syndrome when immunomodulating or anti-inflammatory therapy has been proved to be useless. (bvsalud.org)
  • SCA formerly called autosomal dominant cerebellar ataxia (ADCA), has a prevalence of 1-5/100,000 in the general population. (neuroweb.us)
  • SCA-1 and -3 can be allocated to ADCA I being: progressive cerebellar gait and limb ataxia with pyramidal and extrapyramidal involvement, slow saccadic eye movements, supranuclear ophthalmolegia, hyporeflexia and dementia. (neuroweb.us)
  • [2] Other signs and symptoms during an episode may include low muscle tone , unusual eye movements ( nystagmus or strabismus ), problems with speech ( dysarthria ), difficulty swallowing ( dysphagia ), reduced or absent reflexes , and hearing loss . (nih.gov)
  • Predominant features of NAD are onset before age 20, psychomotor regression (i.e. loss of previously acquired skills), language difficulties, autistic-like behavior, cerebellar atrophy, optic atrophy, progressive dystonia and dysarthria (difficulty pronouncing words). (nbiadisorders.org)
  • Cerebellar dysarthria is also common. (medscape.com)
  • Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. (malacards.org)
  • 57 Infantile cerebellar-retinal degeneration is a severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. (malacards.org)
  • 12 A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. (malacards.org)
  • Nystagmus and seizures have also been reported. (mendelian.co)
  • 8 The clinical manifestations are widespread CNS disturbances, including coma, drowsiness, seizures, and multifocal neurological signs due to involvement of the brain, spinal cord, and optic nerves. (bmj.com)
  • Other common features are psychiatric and behavior abnormalities, spasticity, joint contractures, seizures, and nystagmus (rapid involuntary eye movements). (nbiadisorders.org)
  • The clinical spectrum ranges from pure cerebellar signs to constellations including spinal cord and peripheral nerve disease, cognitive impairment, cerebellar or supranuclear ophthalmologic signs, psychiatric problems, and seizures. (biomedcentral.com)
  • SCA2 and SCA7 may also result in retinal damage, whereas those with SCA10 exhibit loss of muscle control and generalized seizures without other symptoms. (encyclopedia.com)
  • Additional episodic symptoms usually include intermittent abnormal eye movements, episodes of muscle stiffness or posturing (dystonia), and in a substantial percentage of cases, seizures. (rarediseases.org)
  • Patients with focal seizures have symptoms depending on the area of the brain where the seizure starts, often the temporal lobe. (phacdochuabenh.com)
  • For comparison, the areas of these same regions were measured in 67 female patients (0.5-180 months of age) evaluated at Kameda Medical Center for mild neurologic symptoms, such as headache, hypotonia, seizures, febrile delirium, or mild asphyxia. (ajnr.org)
  • 53 Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. (malacards.org)
  • Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). (malacards.org)
  • An important gene associated with Infantile Cerebellar-Retinal Degeneration is ACO2 (Aconitase 2), and among its related pathways/superpathways are Metabolism and Carbon metabolism . (malacards.org)
  • Brain MRI shows progressive cerebral and cerebellar degeneration (summary by Spiegel et al. (malacards.org)
  • Brain MRI shows progressive cerebral and cerebellar degeneration. (malacards.org)
  • The authors report the case of a 37-year-old man diagnosed with Leber's hereditary optic neuropathy (LHON) with olivocerebellar degeneration due to a heteroplasmic G11778A mutation in mitochondrial (mt) DNA ND4 and a homoplasmic T3394C mutation in the mtDNA NADH dehydrogenase (ND) 1 gene. (aao.org)
  • They conclude that the combination of these mutations leads to an atypical LHON phenotype, inducing not only optic neuropathy but also degeneration of the olivocerebellar projections. (aao.org)
  • Eye disease caused by the degeneration of the optic nerve (optic atrophy) is common later on and can cause poor vision and eventual blindness. (nbiadisorders.org)
  • Histopathological data revealed the presence of neuroaxonal spheroids, brain iron depositions, and cerebellar degeneration. (biomedcentral.com)
  • Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. (cdc.gov)
  • In all members of the last generation, the observed symptoms included global cerebellar syndrome, pyramidal, visual impairment and varying degrees of ophthalmoparesis, edpinocerebelosa with progressive retinal degeneration, and atrophy of the cerebellum, brainstem and the cerebral hemispheres. (blaenavon.biz)
  • These may involve the central nervous system (limbic encephalitis, cerebellar degeneration, opsoclonus-myoclonus), the neuromuscular junction (Lambert-Eaton, myasthenic syndrome) or peripheral nervous system (subacute sensory neuropathy). (cancertherapyadvisor.com)
  • Conclusions: Cerebellar involvement may play an important role in natural history of brain degeneration in HD. (bvsalud.org)
  • Cockayne Syndrome is distinguished from WS by its characteristic neurological degeneration (optic atrophy, deafness, nervous system demyelination). (renalandurologynews.com)
  • Neurologically, she had optic atrophy, intermittent horizontal nystagmus, truncal hypotonia, and spastic limbs with exaggerated deep tendon reflexes. (cags.org.ae)
  • At one year of age, she had similar facial features as her siblings with microcephaly (40 cm), and neurologically, she followed light (difficult to see the optic disc), failed a hearing test, had central hypotonia with spastic episodes with no clonus or fisting, normal muscle bulk but increased deep tendon reflexes with down going plantar response, and normal sensation. (cags.org.ae)
  • Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. (malacards.org)
  • MRI showed atrophy of the optic nerve and cerebellum and degenerative changes in the bilateral inferior olivary nucleus. (aao.org)
  • HP, thinning of the corpus callosum and ventricular enlargement, atrophy of the brainstem and cerebellum, T2 hyperintensities in the brainstem. (umin.ac.jp)
  • HM, progressive atrophy of white matter in the cerebellum (vermiform process > hemispheres), head of the caudate nucleus and putamen, and cerebrum. (umin.ac.jp)
  • Some patients may not exhibit atrophy of the basal ganglia (+ cerebellum). (umin.ac.jp)
  • It occurs in young adults (female preponderance) and is characterised clinically by episodes of focal disorder of the optic nerves, brain (cerebrum, brainstem, cerebellum), and spinal cord resulting in characteristic complexes of symptoms and signs. (bmj.com)
  • The typical pathology is atrophy of the cerebellum and brainstem, sometimes also involving the cortex, although both the pathology and the biochemical deficiencies vary between different types of syndrome. (bmj.com)
  • The typical pathology on examination of the brain is atrophy of the brainstem and cerebellum. (bmj.com)
  • There was also supratentorial atrophy but it was considered that the variable mental retardation with special impairment of visuoperceptual skills, eye-hand coordination, visual memory and language may support the role of the cerebellum and brainstem in the acquisition of these skills. (bmj.com)
  • The severity, combination of signs and symptoms, and age of onset of primary coenzyme Q10 deficiency vary widely. (medlineplus.gov)
  • Onset of neurological symptoms usually occurs in childhood during or following an acute febrile illness which may be recurrent. (arizona.edu)
  • Treatment by a psychiatrist is indicated for those with later-onset neuropsychiatric (mental disorder due to disease of the nervous system) symptoms. (nbiadisorders.org)
  • Patients with INAD usually show neurological symptoms with infant onset and die in childhood. (biomedcentral.com)
  • They described an unusual disorder in eight children who demonstrated intermittent episodes of weakness, affecting first one side of the body, then the other, with onset in early childhood, including one child who manifested symptoms as early as 3 months of age. (rarediseases.org)
  • Attack - Sudden onset of new symptoms or worsening of old ones due to multiple sclerosis. (ucsfbenioffchildrens.org)
  • WS can be distinguished from Hutchinson-Gilford progeria syndrome by its later onset, presence of cataracts, hypogonadism, laryngeal atrophy, and osteosclerosis of the distal extremities. (renalandurologynews.com)
  • age at onset of first symptoms depends on the residual function of the deficient lysosomal enzyme. (neurologyadvisor.com)
  • Results The total score of neurological symptoms in WD patients with delayed onset was lower than that of non?delayed onset (13.00 ± 6.87 vs. 21.13 ± 5.53, P=0.033). (bvsalud.org)
  • After treatment, the score of abnormal tremor and gait in patients with delayed onset was decreased (P=0.037, 0.044), while as the occurrence of neurological symptoms was increased by 10%, and the liver function level in patients with delayed WD was decreased in 3 cases. (bvsalud.org)
  • Chelating agents improves the neurological symptoms in patients with delayed onset. (bvsalud.org)
  • Moreover, the early onset nystagmus and leukodystrophy were consistent with a PMLD diagnosis. (medworm.com)
  • Mutations of the CASK gene are associated with X-linked mental retardation with microcephaly and disproportionate brain stem and cerebellar hypoplasia in females. (ajnr.org)
  • Mutations of the CASK gene at Xp11.4 have recently been reported to have a wide phenotypic spectrum, ranging from a severe form in female patients (mental retardation and microcephaly with disproportionate brain stem and cerebellar hypoplasia) 2 , 3 to a milder form in male patients with congenital nystagmus and mental retardation. (ajnr.org)
  • Reported eye movement disorders in vitamin B12 deficiency were downbeat nystagmus and INO in 3 cases each, upward gaze palsy in 2 cases, bilateral abducens palsy, total ophthalmoplegia, bilateral horizontal gaze evoked nystagmus in 1 case each. (omicsonline.org)
  • Transient horizontal gaze-evoked nystagmus and bilateral hearing loss were detected. (bvsalud.org)
  • cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. (mendelian.co)
  • PCH3 is an extremely rare form of PCH, characterized by cerebellar atrophy, rather than hypoplasia, accompanied by progressive microcephaly. (cags.org.ae)
  • The areas of the cerebrum, corpus callosum, pons, midbrain, and cerebellar vermis and hemisphere and a ratio of cerebrum/corpus callosum areas were measured in 5 female patients with CASK mutations, 67 female controls, and 5 patients with pontine hypoplasia. (ajnr.org)
  • 4 The severe form of CASK mutations has been classified in midbrain-hindbrain classification group II.C.3, microcephaly with severe and disproportionate brain stem and cerebellar hypoplasia. (ajnr.org)
  • 4 Male patients with the mild form of CASK mutations rarely have microcephaly or cerebellar hypoplasia and would be difficult to diagnose by neuroimaging. (ajnr.org)
  • Other signs were frequently associated, such as growth retardation, ophthalmologic anomalies (glaucoma, megalocornea and optic atrophy), deafness and epilepsy. (biomedcentral.com)
  • Ocular complications occur in about one third of cases and include vascular retinopathy that may affect one or both eyes, optic atrophy, and retinal detachment. (oncologynurseadvisor.com)
  • Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. (blaenavon.biz)
  • The symptoms and signs of damage to the spinal roots are the same as for peripheral-nerve damage except that the area of involvement is restricted to the area supplied by the spinal roots rather than the nerves. (britannica.com)
  • These SCAs share the primary clinical features of cerebellar syndrome with additionally supranuclear ophthalmoplegia, slow eye movements, optic neuropathy, subcortical dementia, extrapyramidal deficits, dysphagia, pyramidal signs, amyotrophy and peripheral neuropathy. (neuroweb.us)
  • The nature and pattern of the symptoms and physical signs of neurological disease allow inferences to be drawn about the sites of the lesions causing them. (britannica.com)
  • 10 MVEV was also detected in horses exhibiting neurological symptoms across south-eastern Australia. (mja.com.au)
  • A patient's description of symptoms is a valuable tool that allows the physician to learn about the nature and location of a possible neurological disease. (academic.ru)
  • Diane Mueller, ND, RN, FNP-BC, a provider with many years of experience in evaluating and caring for persons with CMI, offers guidance when considering other neurological disorders that may be responsible for the patient's symptoms. (chiarimedicine.com)
  • Clinical symptoms are characterized by significant liver injury, but relatively mild neurological and psychiatric symptoms. (bvsalud.org)
  • Nystagmus and optic atrophy are important ocular signs. (arizona.edu)
  • The entire spectrum of cerebellar ocular motility disorders can occur in persons with OPCA. (medscape.com)
  • Though many of the signs and symptoms of CAPOS syndrome get better as the fever and illness improve, some symptoms, including movement problems, may continue. (nih.gov)
  • Other signs and symptoms of nephrotic syndrome include increased cholesterol in the blood (hypercholesterolemia), an abnormal buildup of fluid in the abdominal cavity (ascites), and swelling ( edema ). (medlineplus.gov)
  • The patient presented with diabetes mellitus, diffuse brain atrophy, autonomic neuropathy, optic nerve atrophy, and a severe amnestic syndrome. (beds.ac.uk)
  • Autopsy on one of the sister with Behr Syndrome revealed central atrophy of the optic nerves and total disarray of the normal laminar pattern of the lateral geniculate nucleus, dropout of neurons, and gliosis. (alchetron.com)
  • The storage syndrome includes a constellation of symptoms/signs in connective tissue (subcutaneous and osteochondral joints), skeleton and visceral organs. (neurologyadvisor.com)
  • In addition to a loss of motor skills, affected individuals also experience cerebellar atrophy, strabismus (crossed eyes) and nystagmus (rapid involuntary eye movements). (nbiadisorders.org)
  • Eye movements to the right increased the frequency of the nystagmus in each eye. (omicsonline.org)
  • On the third postoperative day, however, she developed severe headache with associated abnormal movements of upper limbs and nystagmus . (symptoma.com)
  • Rapid, involuntary eye movements ( nystagmus ), eyes that do not look in the same direction (strabismus), and vision loss due to deterioration (atrophy) of the optic nerve are characteristic of infantile neuroaxonal dystrophy. (checkorphan.org)
  • Myopathy with Extrapyramidal Signs, is also known as proximal myopathy with extrapyramidal signs, and has symptoms including tremor and involuntary movements. (symptoma.co.uk)
  • Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. (mendelian.co)
  • The clinical manifestations of IP are highly variable, from subclinical or asymptomatic in individuals who are diagnosed only after testing because of an affected family member, to severe and disabling symptoms that manifest at birth. (oncologynurseadvisor.com)
  • Symptoms of multiple sclerosis can range from subtle and mild to disabling and severe. (learningneurology.com)
  • Neuromyelitis optica (NMO), also known as Devic's disease, is an inflammatory demyelinating disease characterised by a severe acute transverse myelitis with bilateral simultaneous or sequential optic neuropathy, resulting in paraplegia and blindness with or without recovery. (bmj.com)
  • The patient carried a diagnosis of multiple system atrophy- cerebellar type (MSAc), principally because of severe cerebellar and brainstem atrophy on MRI. (beds.ac.uk)
  • In AARS2 leukodystrophy cases reported thus far, there is nearly invariable progression to severe disability and atrophy of involved brain regions, often within a decade. (biomedcentral.com)
  • Typical mild symptoms include numbness in the toes, fingers and limbs in general, while severe symptoms may include temporary blindness and even paralysis. (rawabolescin.info)
  • Disease may occur in areas without any clinical symptoms. (learningneurology.com)
  • 12 13 There is no clinical involvement beyond the optic nerves and spinal cord. (bmj.com)
  • a combination of symptoms resulting from a single cause or so commonly occurring together as to constitute a distinct clinical picture. (thefreedictionary.com)
  • A unique combination of sometimes apparently unrelated symptoms or signs, forming a distinct clinical entity. (thefreedictionary.com)
  • Clinical manifestations are diverse and may include symptoms typically seen in AQP4-IgG-positive neuromyelitis optica, such as INV and respiratory insufficiency, or in multiple sclerosis, such as INO. (biomedcentral.com)
  • Clinical Appearance This refers to any specific signs and symptoms that are related to the development of an infection or disease. (cram.com)
  • Since no common mutation in autosomal recessive (AR) cerebellar ataxias, whole gene sequencing provide an advantage to detect novel mutations and may be more effective for clinical diagnosis. (bvsalud.org)
  • When the provider suspects the clinical presentation is not fully compatible with the findings on MRI, the outstanding symptom, or symptoms, can be checked with this list to consider other diagnostic possibilities. (chiarimedicine.com)
  • Clinical symptoms of energy deficiency should be treated early and aggressively with intravenous glucose regardless of blood glucose levels. (labome.org)
  • Generally, cerebellar signs and extrapyramidal signs are the predominant signs of OPCA. (medscape.com)
  • Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. (avivasysbio.com)
  • One symptom indicating muscular disease is weakness, usually symmetrical (that is, affecting both sides of the body) and mainly affecting the proximal or girdle muscles . (britannica.com)
  • Where fatigue and weakness are the symptoms, the underlying cause of disease may be a failure of motor nerve impulses to cross to the muscle end plate at the neuromuscular junction . (britannica.com)
  • Symptoms of motor nerve damage include weakness and muscle atrophy . (britannica.com)
  • The most prominent symptom is repeated episodes of weakness or paralysis affecting one side of the body at a time in an alternating fashion (alternating hemiplegia or hemiparesis). (rarediseases.org)
  • In January 2008, a 61-year-old man with a history notable for diabetes mellitus (DM), autonomic neuropathy, diffuse brain atrophy, optic nerve atrophy (OA), and profound amnesia was referred to us to establish neurologic care. (beds.ac.uk)
  • In fact, optic neuritis is a common presentation of multiple sclerosis. (learningneurology.com)
  • Please note that neuromyelitis optica (Devic's disease) was formerly considred to be a variant of multiple sclerosis, but is now established as a separate condition: Devic's disease: , optic neuritis in both eyes & transverse myelitis. (learningneurology.com)
  • Myelin oligodendrocyte glycoprotein antibodies (MOG-IgG) are present in a subset of aquaporin-4 (AQP4)-IgG-negative patients with optic neuritis (ON) and/or myelitis. (biomedcentral.com)
  • Afferent pupillary defect - An abnormal reflex response to light that is a sign of nerve fiber damage due to optic neuritis. (ucsfbenioffchildrens.org)
  • Spastic Paraplegia 16, X-Linked, also known as spg16 , is related to spastic paraplegia 16 and neuropathy, hereditary sensory, type iic , and has symptoms including restlessness , urgency of micturition and abnormal pyramidal signs . (malacards.org)
  • Nystagmus may be seen early during acute febrile episodes but eventually becomes permanent. (arizona.edu)
  • Vision changes ( optic atrophy ) and sensorineural hearing loss tend to worsen over time, although the severity and rate of progression varies. (nih.gov)
  • The central nervous system white matter includes the optic nerves. (learningneurology.com)
  • The increased intracranial pressure is transmitted to the optic nerves by the meningeal spaces surrounding the nerve. (burlesqueaustralia.com)
  • Unilateral papilledema may be due to asymmetric swelling of the optic nerves. (burlesqueaustralia.com)
  • The initial symptoms consist of diplopia due to paralysis of the 3rd, 4th, or 6th cranial nerves, irregular pupils, paresthesia and hyperesthesia. (neuroweb.us)
  • some had concomitant diencephalic (2/13) or cerebellar lesions (1/14). (biomedcentral.com)
  • Over time a variety of symptoms and pathological lesions are disseminated anatomically. (rawabolescin.info)
  • 5 Barone et al 12 report on patients with typical type Ia syndromes and radiological evidence of olivopontocerebellar atrophy. (bmj.com)
  • see this term) characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. (mendelian.co)
  • Cranial magnetic resonance imaging indicated bilateral optic atrophy. (bvsalud.org)
  • They can be divided by the mode of inheritance to autosomal dominant, autosomal recessive, or sporadic conditions, Harding proposed a classification of autosomal dominant cerebellar ataxias (ADCA) into three categories, Type I, Type II and Type III. (biomedcentral.com)
  • Autosomal Dominant Cerebellar Ataxias (ADCAs) are a group of ataxias divided into Types I, II, and III, according to the symptoms involved. (encyclopedia.com)
  • In diagnosing childhood multiple sclerosis (MS), the doctor must determine whether a single episode of neurologic symptoms is ADEM or the beginning of MS. (ucsfbenioffchildrens.org)
  • Although it is an autosomal recessive disorder, heterozygotes may still manifest much attenuated symptoms. (alchetron.com)
  • Some reported cases have been found to carry mutations in the OPA1, OPA3 or C12ORF65 genes which are known causes of pure optic atrophy or optic atrophy complicated by movement disorder. (alchetron.com)
  • However, the disorder remained poorly understood for many years, in part, because of its rarity and complex and highly variable symptoms. (rarediseases.org)
  • AHC is a highly variable and unpredictable disorder and the specific symptoms and severity of the disorder can vary greatly from one person to another. (rarediseases.org)
  • 1. A group of symptoms that collectively indicate or characterize a disease, disorder, or other condition considered abnormal. (thefreedictionary.com)
  • T2-weighted images show that the entire white matter is faintly hyperintense, with only those sites where early myelination occurs (such as the posterior limb of the internal capsule, the optic radiation and the corticospinal tract) exhibiting hypointensity reflecting myelination. (umin.ac.jp)
  • In contrast to frequent optic nerve involvement, eye movement disorders in B12D, which is extremely rare, has only been reported 11 times in the literature [ 2 - 10 ]. (omicsonline.org)
  • As MOG-IgG-positive brainstem encephalitis may take a serious or even fatal course, particular attention should be paid to signs or symptoms of additional brainstem involvement in patients presenting with MOG-IgG-positive ON and/or myelitis. (biomedcentral.com)
  • Multiorgan system involvement is the hallmark, although some mitochondrial disorders affect a single organ such as the eye in Leber hereditary optic neuropathy (LHON) (see below). (renalandurologynews.com)
  • Parkinsonian symptoms with cogwheel rigidity, bradykinesia, and tremor may be the predominant picture in some cases of OPCA. (medscape.com)
  • CT scan or MRI brain imaging revealed cerebral and cerebellar atrophy, and sinus mucosal thickening in 4 subjects. (symptoma.ie)
  • Neuropathological findings were characterized by numerous axonal spheroids, brain iron deposition, cerebellar neuronal loss, phosphorylated alpha-synuclein-positive Lewy bodies (LBs), and phosphorylated-tau-positive neurofibrillary tangles. (biomedcentral.com)
  • Nystagmus, slow saccades, and abnormal fundoscopic examination findings are present in varying degrees. (medscape.com)
  • Other characteristic findings include an altered distribution of subcutaneous fat, trophic ulcers of the feet and over other bony prominences, hypermelanosis, soft tissue calcifications, and atrophy of the extremities. (renalandurologynews.com)
  • It is not yet known how changes in this gene cause the symptoms of PLAN or high brain iron in some affected individuals. (nbiadisorders.org)
  • Objective: The aim of the study was to report the proportion of homozygous and compound heterozygous variants in the survival motor neuron 1 (SMN1) gene in a large population of patients with spinal muscular atrophy (SMA) and to correlate the severity of the disease with the presence of specific intragenic variants in SMN1 and with the SMN2 copy number. (bvsalud.org)
  • MR imaging in patients with CASK mutations revealed a normal size of the corpus callosum and a low ratio of the cerebrum/corpus callosum with a reduced area of the cerebrum, pons, midbrain, and cerebellar vermis and hemispheres. (ajnr.org)
  • Monarch's tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. (nih.gov)
  • What signs and symptoms are caused by it? (coursehero.com)
  • The symptoms and signs of these syndromes are described, with variations that occur at different ages. (bmj.com)
  • 2-6 The symptoms and signs which can suggest the diagnosis of these syndromes are shown in the box on the next page. (bmj.com)
  • Most infants with cCMV will not have signs or symptoms of cCMV disease at birth and will remain well. (cdc.gov)
  • None of the other neurologic signs and symptoms was found in the patient. (omicsonline.org)
  • The aggregate of symptoms and signs associated with any morbid process, together constituting the picture of the disease. (thefreedictionary.com)
  • The combination of signs and symptoms associated with a particular morbid process, which together constitute the picture of a disease or inherited anomaly. (thefreedictionary.com)
  • In some cases, symptoms and signs may suggest a particular mitochondrial disease. (rarediseasesnetwork.org)
  • Therapies to treat specific symptoms and signs of mitochondrial diseases are very important. (rarediseasesnetwork.org)
  • In some cases, signs and symptoms of infantile neuroaxonal dystrophy first appear later in childhood or during the teenage years and progress more slowly. (checkorphan.org)
  • Paraneoplastic syndromes are defined as symptoms and signs distant to the primary tumor site and unrelated to local effects or metastasis. (cancertherapyadvisor.com)
  • Incomplete assessment of patients during routine examinations and the failure to correlate symptoms with signs are probably more common reasons for missed neuro-ophthalmic diagnoses than the potential subtlety of neuro-ophthalmic signs. (medscape.com)
  • Recurrent ear infections and symptoms and signs of hydrocephalus can also occur in LSDs. (neurologyadvisor.com)
  • Cerebellar espinocerebflosa with epileptic encephalopathy. (blaenavon.biz)
  • However, an increasing number of patients with overlapping symptoms that further expand the phenotypes even beyond these well-described disorders, initially thought to be completely distinct, continues to expand. (rarediseases.org)